ABSTRACT
This chapter reviews the most important primary immunodeficiency diseases associated with atopic-like dermatitis or eczema, including clinical presentation, pathophysiology, diagnostic work-up, and management, with the hope of facilitating early diagnosis and appropriate management. Four diseases that regularly present with an atopic-like eczema are Wiskott–Aldrich syndrome (WAS), hyper-IgE syndrome, Omenn syndrome, and immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. As early diagnosis is necessary for appropriate treatment and prophylaxis, WAS should be suspected when a male infant presents with a bleeding diathesis and eczema. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is a primary immune deficiency syndrome with autoimmune manifestations resulting in GI disturbances, endocrine disorders, and dermatitis that is usually eczematous. Young males with IPEX require aggressive supportive therapy, including insulin and thyroid replacement, red cell and platelet transfusions, and parenteral nutrition. Hemopoietic stem cell transplantations are currently considered the most promising treatment for IPEX.
